KIF7 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human KIF7 wild-type allele is located in the vicinity of 15q26.1 and is approximately 54 kb in length. This allele, which encodes kinesin-like protein KIF7, is involved in microtubule motor activity, the regulation of both hedgehog-mediated GLI transcription factor activity and microtubule dynamics. Mutation of the gene is associated with hydrolethalus syndrome 2, acrocallosal syndrome, Joubert syndrome 12, and macrocephaly with multiple epiphyseal dysplasia and distinctive facies (MMEDF; AGBK).

**Synonyms:** - ACLS - AGBK - HLS2 - JBTS12 - Kinesin Family Member 7 wt Allele - MMEDF - UNQ340 - UNQ340/PRO539